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Case Reports
. 2021 May;33(116):173-176.
doi: 10.22038/ijorl.2021.48471.2602.

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

Javad Mohammadi-Asl  1 , Nader Saki  2 , Masoud Dehdashtiyan  3 , Mostafa Neissi  4 , Farideh Ghanbari Mardasi  5
Affiliations
Case Reports

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

Javad Mohammadi-Asl et al. Iran J Otorhinolaryngol. 2021 May.

Abstract

Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder.

Case report: We carried out whole exome sequencing (WES) to screen hearing loss candidate genes in a member of an Iranian family with hearing loss. The Sanger process was used to sequencing the variant in the family members. A novel mutation (c. 559C > T) was found in the WFS1 gene (in exon 5) in the patient leading to a heterozygous missense mutation (p.L187F). Furthermore, it co-segregated with HL in the family. All affected individuals in the family had severe-to-profound HL.

Conclusion: This survey is the first to describe WFS1 related HL in the Iranian population. Our data propose that the WFS1-p.L187F mutation is the pathogenic variant for autosomal dominant nonsyndromic hearing loss. Our results extend the range of the WFS1 gene mutations.

Keywords: Hearing Loss; Next Generation Sequencing (NGS); Novel Mutation; WFS1; Whole Exome Sequencing (WES).

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Figures

Fig 1
Fig 1
(A) Pedigree of a family with the p.L187F mutation. Filled symbols indicating affected individuals. (B) Partial DNA sequences of the WFS1 gene showing the c.559C>T change in the family members and a normal control. (C) The amino acid changes are caused by the changes in the DNA sequence. (D) Multiple alignments of the WFS1 in different species. The amino acid sequence of human WFS1 is aligned with sequences of other species. The =arrow marks the p.L187F mutation
See this image and copyright information in PMC

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